ClinVar

NM_000141.5(FGFR2):c.1977G>T (p.Lys659Asn)

Gene:

FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121488000 (on Assembly GRCh38)
• Chr10: 123247514 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.1977G>T (p.Lys659Asn)

HGVS:

• NC_000010.11:g.121488000C>A
• NG_012449.2:g.115459G>T
• NM_000141.5:c.1977G>TMANE SELECT
• NM_001144913.1:c.1980G>T
• NM_001144914.1:c.1641G>T
• NM_001144915.2:c.1710G>T
• NM_001144916.2:c.1632G>T
• NM_001144917.2:c.1629G>T
• NM_001144918.2:c.1626G>T
• NM_001144919.2:c.1713G>T
• NM_001320654.2:c.1293G>T
• NM_001320658.2:c.1971G>T
• NM_022969.1:c.1980G>T
• NM_022970.4:c.1980G>T
• NM_023029.2:c.1710G>T
• NP_000132.3:p.Lys659Asn
• NP_000132.3:p.Lys659Asn
• NP_001138385.1:p.Lys660Asn
• NP_001138386.1:p.Lys547Asn
• NP_001138387.1:p.Lys570Asn
• NP_001138388.1:p.Lys544Asn
• NP_001138389.1:p.Lys543Asn
• NP_001138390.1:p.Lys542Asn
• NP_001138391.1:p.Lys571Asn
• NP_001307583.1:p.Lys431Asn
• NP_001307587.1:p.Lys657Asn
• NP_075258.1:p.Lys660Asn
• NP_075259.4:p.Lys660Asn
• NP_075259.4:p.Lys660Asn
• NP_075418.1:p.Lys570Asn
• LRG_994t1:c.1977G>T
• LRG_994t2:c.1980G>T
• LRG_994:g.115459G>T
• LRG_994p1:p.Lys659Asn
• LRG_994p2:p.Lys660Asn
• NC_000010.10:g.123247514C>A
• NM_000141.4:c.1977G>T
• NM_022970.3:c.1980G>T
• NR_073009.2:n.2413G>T

This HGVS expression did not pass validation

Protein change:

K431N

Links:

dbSNP: rs1589722765

NCBI 1000 Genomes Browser:

rs1589722765

Molecular consequence:

• NM_000141.5:c.1977G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144913.1:c.1980G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144914.1:c.1641G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144915.2:c.1710G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144916.2:c.1632G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144917.2:c.1629G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144918.2:c.1626G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144919.2:c.1713G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320654.2:c.1293G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320658.2:c.1971G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022969.1:c.1980G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022970.4:c.1980G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_023029.2:c.1710G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073009.2:n.2413G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]